Polymorphisms and haplotype of mitochondrial DNA D-loop region are associated with polycystic ovary syndrome in a Chinese population
Release date:
2021-09-23
Description:
Polymorphisms in mitochondrial DNA (mtDNA) have been linked to a range of diseases. Here we investigate the relationship between mtDNA D-loop region polymorphisms, mtDNA haplotype and polycystic ovary syndrome (PCOS), as well as the correlation of D-loop variants and clinical characteristics of PCOS, in a Chinese population. The mtDNA D-loop of whole blood samples from 421 PCOS patients and 409 controls underwent next generation sequencing. The variants G207A, 16036GGins and 16049Gins were associated with decreased risk of PCOS. No variants were associated with PCOS, and within the PCOS group, no statistical significance was found between D-loop polymorphisms and clinical characteristics. Patient haplotype was identified from D-loop single nucleotide polymorphisms and analysis suggested that haplotype A15 was significantly associated with decreased risk of PCOS. In conclusion, mtDNA D-loop alterations and haplotype appear to confer resistance to PCOS in Chinese women.
For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.
Organization: The First Affiliated Hospital of Anhui Medical University
Submission date: 2021-07-10
Requests: -
Aspera Command Line
You need to install the Aspera Connect plugin before uploading your files. If you dont have Aspera Connect plugin installed in your computer, please Download Aspera Connectand install it first.
[path/to/ascp]: Microsoft Windows: C:\Program Files\Aspera\Aspera Connect\bin\ascp.exe or
c:\users\[username]\AppData\Local\Programs\Aspera\Aspera Connect\bin\ascp.exe
Mac OS X: /Applications/Aspera/Connect.app/Contents/Resources/ascp (for admin's installation) or
/Users/[username]/Applications/Aspera/Connect.app/Contents/Resources/ascp (for non-admin's installation)
Linux: /opt/aspera/bin/ascp or
/home/[username]/aspera/connect/bin/ascp
[path/to/key/file] must be an absolute path, e.g.: /home/keys/aspera.openssh
[path/to/folder/containing/files] needs to specify the local folder that contains all the files to upload.